NM_006790.3(MYOT):c.982A>G (p.Arg328Gly) AND Myofibrillar myopathy 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 3, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001897013.4
Allele description [Variation Report for NM_006790.3(MYOT):c.982A>G (p.Arg328Gly)]
NM_006790.3(MYOT):c.982A>G (p.Arg328Gly)
Condition(s)
- Name:
- Myofibrillar myopathy 3 (MFM3)
- Synonyms:
- Limb-girdle muscular dystrophy, type 1A; Muscular dystrophy, proximal, type 1A; Spheroid body myopathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012215; MedGen: C3714934; Orphanet: 266; Orphanet: 268129; OMIM: 609200
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da78g10.y1 Harland stage 19-23 Xenopus laevis cDNA clone IMAGE:3201090 5' simila...
da78g10.y1 Harland stage 19-23 Xenopus laevis cDNA clone IMAGE:3201090 5' similar to gb:D90151 Mouse mRNA for CArG-binding factor-A, complete cds (MOUSE), mRNA sequencegi|7699586|gnl|dbEST|4228630|gb|AW7 .1|Nucleotide
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Last Updated: Sep 29, 2024